title: Maternal factor V Leiden and prothrombin mutations do not seem to contribute to the occurrence of two or more than two consecutive miscarriages in Caucasian patients.
abstract: BACKGROUND
  We analysed the prevalence of the most common hereditary thrombophilia (hTP) - factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) - and the 677 C>T replacement in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth.
  
  
  METHODS
  A multicenter analysis of three hTP was performed in 641 RM patients identically screened at specialized university centres.
  
  
  RESULTS
  The study groups consisted of 240 patients with 2 (1) and 401 patients with >2 miscarriages (2) and were compared with 157 controls. There was no significant difference in the prevalence of the hTP between RM patients and controls nor within the two study groups. Subgroup analysis showed that the homozygous MTHFR polymorphism was significantly more prevalent in the study group 2 as compared to study group 1 (13.9 versus 7.9%, P = 0.02).
  
  
  CONCLUSIONS
  In Caucasians, maternal FVL or PT mutations do not seem to contribute to the pathophysiology of RM, irrespective of the number of miscarriages. However, the role of the homozygous MTHFR polymorphism merits further investigation.
authors.affiliation: Department of Obstetrics and Gynaecology, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.
authors.forename: Kristin
authors.initials: K
authors.lastname: Baumann
authors.forename: Petra
authors.initials: P
authors.lastname: Beuter-Winkler
authors.forename: Andreas
authors.initials: A
authors.lastname: Hackethal
authors.forename: Thomas
authors.initials: T
authors.lastname: Strowitzki
authors.forename: Bettina
authors.initials: B
authors.lastname: Toth
authors.forename: Michael K
authors.initials: MK
authors.lastname: Bohlmann
mesh_terms: D000026:Abortion, Habitual / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D015331:Cohort Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D011516:Prothrombin / Q000235:genetics*; D012189:Retrospective Studies; D044465:White People / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Factor V Leiden mutation; MTHFR (C677T) polymorphism; prothrombin (G20210A) mutation; recurrent miscarriage; thrombophilia